{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3074367",
  "communityStandardTitle": [
    "NM_001291303.3(FAT4):c.13417G>A (p.Val4473Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=536663[alleleid]",
        "alleleId": 536663,
        "preferredName": "NM_001291303.3(FAT4):c.13417G>A (p.Val4473Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/546123",
        "RCV": [
          "RCV000657948",
          "RCV001175011",
          "RCV003918099"
        ],
        "variationId": 546123
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-126411388-G-A",
        "id": "4-126411388-G-A",
        "variant": "4:126411388 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.126411388G>A?assembly=hg19",
        "id": "chr4:g.126411388G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.125490233G>A?assembly=hg38",
        "id": "chr4:g.125490233G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/145835705",
        "rs": 145835705
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-126411388-G-A?dataset=gnomad_r2_1",
        "id": "4-126411388-G-A",
        "variant": "4:126411388 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-125490233-G-A?dataset=gnomad_r3",
        "id": "4-125490233-G-A",
        "variant": "4:125490233 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-125490233-G-A?dataset=gnomad_r4",
        "id": "4-125490233-G-A",
        "variant": "4:125490233 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 125490233,
          "referenceAllele": "G",
          "start": 125490232
        }
      ],
      "hgvs": [
        "NC_000004.12:g.125490233G>A",
        "CM000666.2:g.125490233G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 126411388,
          "referenceAllele": "G",
          "start": 126411387
        }
      ],
      "hgvs": [
        "NC_000004.11:g.126411388G>A",
        "CM000666.1:g.126411388G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 126630838,
          "referenceAllele": "G",
          "start": 126630837
        }
      ],
      "hgvs": [
        "NC_000004.10:g.126630838G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 178822,
          "referenceAllele": "G",
          "start": 178821
        }
      ],
      "hgvs": [
        "NG_033865.1:g.178822G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005552"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14452,
          "referenceAllele": "G",
          "start": 14451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000394329.9:c.13417G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377862.4:p.Val4473Ile",
        "hgvsWellDefined": "ENSP00000377862.4:p.Val4473Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753245",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394329.9:c.13417G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001291303.3:c.13417G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377862.4:p.Val4473Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001278232.1:p.Val4473Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9302,
          "referenceAllele": "G",
          "start": 9301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000674496.2:c.8188G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501473.2:p.Val2730Ile",
        "hgvsWellDefined": "ENSP00000501473.2:p.Val2730Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774456"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8134,
          "referenceAllele": "G",
          "start": 8133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000335110.5:c.8134G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000335169.5:p.Val2712Ile",
        "hgvsWellDefined": "ENSP00000335169.5:p.Val2712Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260055"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13424,
          "referenceAllele": "G",
          "start": 13423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "ENST00000394329.7:c.13411G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377862.3:p.Val4471Ile",
        "hgvsWellDefined": "ENSP00000377862.3:p.Val4471Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276121"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826792403",
      "coordinates": [
        {
          "allele": "A",
          "end": 13414,
          "referenceAllele": "G",
          "start": 13413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.1:c.13414G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Val4472Ile",
        "hgvsWellDefined": "NP_001278214.1:p.Val4472Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658832673",
      "coordinates": [
        {
          "allele": "A",
          "end": 13417,
          "referenceAllele": "G",
          "start": 13416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291303.1:c.13417G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278232.1:p.Val4473Ile",
        "hgvsWellDefined": "NP_001278232.1:p.Val4473Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830017103",
      "coordinates": [
        {
          "allele": "A",
          "end": 13411,
          "referenceAllele": "G",
          "start": 13410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.4:c.13411G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Val4471Ile",
        "hgvsWellDefined": "NP_078858.4:p.Val4471Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13510,
          "referenceAllele": "G",
          "start": 13509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532236.1:c.13417G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530538.1:p.Val4473Ile",
        "hgvsWellDefined": "XP_011530538.1:p.Val4473Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099264"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8319,
          "referenceAllele": "G",
          "start": 8318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532237.1:c.8188G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530539.1:p.Val2730Ile",
        "hgvsWellDefined": "XP_011530539.1:p.Val2730Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099265"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14494,
          "referenceAllele": "G",
          "start": 14493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532236.2:c.13417G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530538.1:p.Val4473Ile",
        "hgvsWellDefined": "XP_011530538.1:p.Val4473Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550746"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9302,
          "referenceAllele": "G",
          "start": 9301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "XM_011532237.2:c.8188G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530539.1:p.Val2730Ile",
        "hgvsWellDefined": "XP_011530539.1:p.Val2730Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826792403",
      "coordinates": [
        {
          "allele": "A",
          "end": 14449,
          "referenceAllele": "G",
          "start": 14448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.2:c.13414G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Val4472Ile",
        "hgvsWellDefined": "NP_001278214.1:p.Val4472Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682782"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658832673",
      "coordinates": [
        {
          "allele": "A",
          "end": 14452,
          "referenceAllele": "G",
          "start": 14451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291303.3:c.13417G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278232.1:p.Val4473Ile",
        "hgvsWellDefined": "NP_001278232.1:p.Val4473Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682785",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394329.9:c.13417G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001291303.3:c.13417G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377862.4:p.Val4473Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001278232.1:p.Val4473Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830017103",
      "coordinates": [
        {
          "allele": "A",
          "end": 14446,
          "referenceAllele": "G",
          "start": 14445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.5:c.13411G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Val4471Ile",
        "hgvsWellDefined": "NP_078858.4:p.Val4471Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826792403",
      "coordinates": [
        {
          "allele": "A",
          "end": 14449,
          "referenceAllele": "G",
          "start": 14448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_001291285.3:c.13414G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278214.1:p.Val4472Ile",
        "hgvsWellDefined": "NP_001278214.1:p.Val4472Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716679"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830017103",
      "coordinates": [
        {
          "allele": "A",
          "end": 14446,
          "referenceAllele": "G",
          "start": 14445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NM_024582.6:c.13411G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078858.4:p.Val4471Ile",
        "hgvsWellDefined": "NP_078858.4:p.Val4471Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728654"
    }
  ],
  "type": "nucleotide"
}